Canonical Allele Identifier: CA1726783397
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1792281488
gnomAD v4: 7-94426566-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426566T>C , CM000669.2:g.94426566T>C GRCh38
NC_000007.13:g.94055878T>C , CM000669.1:g.94055878T>C GRCh37
NC_000007.12:g.93893814T>C NCBI36
NG_007405.1:g.37006T>C , LRG_2:g.37006T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3105+36T>C MANE Select ENSP00000297268.6:n.3105+36T>C
ENST00000297268.10:c.3105+36T>C ENSP00000297268.6:n.3105+36T>C
ENST00000478215.1:n.700T>C
ENST00000481570.5:n.3114T>C
ENST00000488121.1:n.21+36T>C
ENST00000620463.1:c.3099+36T>C ENSP00000477719.1:n.3099+36T>C
NM_000089.3:c.3105+36T>C , LRG_2t1:c.3105+36T>C NP_000080.2:n.3105+36T>C
NM_000089.4:c.3105+36T>C MANE Select NP_000080.2:n.3105+36T>C